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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome 被引量:1

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome
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摘要 Dear Editor, Androgen insensitivity syndrome (AIS) is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects: complete AIS (CAIS), with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty) AIS is usually caused by mutations in the androgen receptor (AR) gene. Dear Editor, Androgen insensitivity syndrome (AIS) is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects: complete AIS (CAIS), with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty) AIS is usually caused by mutations in the androgen receptor (AR) gene.
出处 《Asian Journal of Andrology》 SCIE CAS CSCD 2018年第3期308-310,共3页 亚洲男性学杂志(英文版)
基金 This study was supported by a grant from the National Natural Science Foundation of China (No, 81471432),
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